Associated Papers
Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia.
Schiffmaier J et al.
Frontiers in Cell and Developmental Biology, 2025
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?
Tornero C et al.
Orphanet Journal of Rare Diseases, 2020
Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia.
Xu L et al.
Bioscience Reports, 2018
[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].
Li DF et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
Martins L et al.
Bone, 2013
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.
Satou Y et al.
Biochimica Et Biophysica Acta, 2012
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
Zhu T et al.
The Chinese Journal of Dental Research, 2012
Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia.
Nasu M et al.
The Febs Journal, 2006
Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.
Michigami T et al.
European Journal of Pediatrics, 2005
Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.
Taillandier A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.
Zweier C et al.
Journal of Medical Genetics, 2003
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Spentchian M et al.
Human Mutation, 2003
Marrow cell transplantation for infantile hypophosphatasia.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003
Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia.
Watanabe H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002
Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia.
Orimo H et al.
Journal of Bone and Mineral Metabolism, 2002
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Stoll C et al.
Genetic Counseling (geneva, Switzerland), 2002
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
Orimo H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
Watanabe H et al.
Oral Diseases, 2001
A molecular approach to dominance in hypophosphatasia.
Lia-Baldini AS et al.
Human Genetics, 2001
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
Taillandier A et al.
Human Mutation, 2000
Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.
Müller HL et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Human Mutation, 2000
Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia.
Mornet E et al.
Prenatal Diagnosis, 1999
Correlations of genotype and phenotype in hypophosphatasia.
Zurutuza L et al.
Human Molecular Genetics, 1999
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.
Taillandier A et al.
Human Mutation, 1999